Isochromosome formation results when one arm of a chromosome is lost and the remaining arm is duplicated, resulting in a chromosome consisting of two short arms only or of two long arms.
An isochromosome has morphologically identical genetic information in both arms.
The most common isochromosome present in live births involves the long arm of the X and is designated i(X)(q10). The Xq isochromosome is associated with monosomy for genes on the short arm of X and with trisomy for genes on (...)

A subset of familial cases of renal cell carcinoma harbors a balanced constitutional chromosome 3 translocation. To date nine different chromosome 3 translocations have been associated with familial or multicentric clear cell RCC; and in three cases chromosome 6 was also involved.
The constitutional translocation, t(3;6)(q22;q16.1) is associated with multicentric RCC without evidence of VHL target gene dysregulation.
An analysis of breakpoint sequences revealed a 1.3-kb deletion on (...)